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Porphyria Educational Services
Monthly Newsletter
March 2002

Disclaimer
All information published in the Porphyria Educational Services Monthly Newsletter is to provide information on the various aspects of the disease porphyria and it's associated symptoms, triggers, and treatment.

Columnist and contributors and the information that they provide are not intended as a substitute for the medical advice of physicians. The diagnosis and treatment of the porphyrias are based upon the entire encounter between a physician and the individual patient.

Specific recommendations for the confirmed diagnosis and treatment of any individual must be accomplished by that individual and their personal physician, acting together cooperatively.

Porphyria Educational Services in no way shall be held responsible in part or whole for any injury, misinformation, negligence, or loss incurred by you. In reading the monthly newsletters you need to agree not to hold liable any contributing writers.




Focus:GUNTHER'S DISEASE [CEP] PORPHYRIA

     A rarer form of porphyria is that of CEP [Erythropoetic Protoporphyria].

     In the CEP there is an involvement of a defect in the hepatic cells, while in both the EPP the cause of the porphyria is due to the a major enzymatic abnormality in the erythropoietic system.

     Before we begin, let us define some of the terms used. The prefix "erythro" is a combining word meaning "red". "Erythrocytes" are red blood cells. So we are talking "red". "Enzymes" are a protein that causes chemical reactions in living matter. Enzymes affect the reactions that take place within the cells of our body.

     The CEP form of porphyria is also known as Gunther's Disease. CEP is also inherited.CEP is an autosomal recessive trait. The emzyme responsible for this disorder is a deficiency of the uroporphyringon II synthase.

     In CEP the excess porphyrin in the body causes staining of the bones and teeth which is known as erythrodontia. In addition the symptoms of CEP include hemolysis, dark urine, and the typical photosensitivity.

     CEP is usually identified early in infancy.

     Repeated vesiculation, scarring, and mutilation following exposure to sunlight are key exacerbations of CEP.

     0ral sorbents like cholestyramine and charcoal are interevention therapies advocated for CEP whereas they decrease reabsorption of porphyrins from the intestines.

     All too often in CEP premature death occurs. Bone marrow transplantation has been successful in some patients. However in CEP, patients usually die from opportunistic infection due to the CEP patient's weakness and inability to fight off viruses and bacteria.

     Research is ongoing in findings solutions. Gene therapy for porphyria has been quite successful in cell culture and animal models, but these therapies have not yet reached the human clinical trials which taks many years to accomplished before they are finally approved for routine therapy.

Dr. Robert Johnson, M.D.
Retired Clinician


PORPHYRIA & CHRONIC PAIN

     Porphyric pain may be acute or chronic.

     Acute pain is a one-dimensional pain. This means that it is a symptom of an underlying pathology. The primary goal of pain management therapy would be the treatment of the underlying disease which reduces or eliminates the pain. [We hope!!!] Analgesics are used as adjunctive medications to provide short term comfort and prevent behaviors that interfere with the recovery process from an acute attack of porphyria.

     On the other-hand chronic pain is a multi-dimensional type of pain. It is very complex. Because of the complexity the interplay between between the psychological, physical and social factors can actually worsen the symptoms.

     There are three types of chronic pain. The first is pain resulting from a chronic condition. The second type of pain is from an acute injury that usually lasts longer than expected, and the third type of pain is a pain for which there is no discernible cause. Sound familiar? So it is with most porphyria pain.

     Chronic pain in and by itself may be considered a disease. In this case reducing or eliminating the pain without increasing the risks is the primary desired result of treatment therapy.

     In a 1998 study it was estimated that more than 75 million people in the United States alone have some kind of persistent recurrent pain. Among these are those who suffer lower back pain and chronic tension headaches.

     Chronic pain as most porphyrics so well know, affects all aspects of their lives. Pain is described as being "an unpleasant sensory and emotional experience arising from actual or potential tissue damage .

     The dual physical and emotional aspectsof the definition are important to remember because they are so very conencted.

     The physiological and physical effects of pain include increased pulse, blood pressure, and respiration. It also means decreased activity and mobility. {Don't we all know!!!]

     In addition chronic pain also causes fatugue, sleep disruption or restlessness, anxiety, agitation, anger, and all too often, depressiobn. Some aspects become too prevalent in a porphyric's life that they literally become unable to function.

Cheryl "Little Flower" Nelson R.N.
Patient Care Coordinator




SUICIDE AND PORPHYRIC PAIN

     Throughout much of the known history of porphyria, there have been those porphyrics who have ended their lives. Most notable of these porphyrics was of course the famed Vincent Van Gogh.

     His problem of course was that when he went into a poprhyic attack, he would drink a thimble of absythe to dull the severity of the pain. And it may for a short time, but at the same time was the "trigger" for another acute attack of porphyria. It happened so often that Van Gogh was chronic and no longer just a smoldering chronic porphyric but in severe chronic pain.br>
     Finally, unable to handle his porphyric condition he commited suicide.

     Suicide is NOT a treatment for anything. This same thought was stated recently in an article in a California mainline newspaper publication where the "right to die" was being discussed.

     Debate started in the California legislature regarding physician-assisted suicide with the introduction of Assembly Bill 1592.

     Rather than debate such issues to end life, it should rather be the issue of requiring physicians to include courses that familiarize them with the disease porphyria and addressing pain and symptom management of the various types of porphyria.

     Under legislation effective January 1, 2001 physicians must address the pain of patients.br>
     Another issue that needs to be stressed is to be sure that pain medications are readily available to porphyria patients in pain. Legislation also has to be made clear that allows for physician caring for porphyric patients to prescribe appropriate dosages of medications without fear of the wrath of the law enforcement officials intent on the waging of war on drugs.

     Laws have been enacted to allow access to pain medications and reduced the inefficiancy of the triplicate prescription process for administering drugs to terminally ill patients. Those suffering from a terminal illness are no longer subject to long delays in approval of non-formulary medications.

     However, porphyrics are not terminal, but many days it seems as if we wish the porphyria were terminal. It is not. And suicide is not an answer.

     We must be sure that legislation is made that will enable our physicians to prescribe the medications that we need in order to live a better quality of daily life.

     All concerned parties should work together for the behalf of porphyrics and continue down the humanitarian path of treating pain in suffering individuals both porphyrics and others in severe pain.

Dr. Kenneth Carlson
Neuropsychiatric



THE IMPORTANCE OF THE LIVER IN PORPHYRIA

     The liver is a an important focus in the hepatic types of acute porphyria as well as some of the cutaneous formsbr>
     The liver is the main organ that keeps a person alive . It is said of the liver that it performs over 100 separate bodily functions. One of these functions is the regulation of the production of porphyrins.

     The sheer complexity of the liver makes it susceptible to almost as many different diseases. Many of these diseases are rare, or like some types of porphyria, not rare, but hardly common either.

     Of the common liver diseases some are "household names" that are all too common, including hepatitis, cirrhosis, liver disorders in children, alcohol-related disorders, and liver cancer.

     In a report published in a medical journal in 1998, it states that over 25 million people are afflicted with liver and gallbladder disease each year. Furthermore the report states that over 27,000 Americans die from cirrhosis annually. With a mortality census like this, it makes cirrhosis of the liver the third leading cause of death for people between the ages of 25 and 59 , and the seventh leading cause of death overall in the United States today.

     Viruses, hereditary defects such as porphyria, and reactions to drugs and chemicals are among the known causes of liver breakdown.

     Though few treatments are effective for life-threatening liver disease, avoiding alcohol and other substances known to cause damage can do a lot to safeguard this important organ.

     Many drugs are unsafe for use in people with liver disease. This is especially true of the the drugs that are known as Cytochrome P-450 drugs.

     It is vital to read up on any pharmaceutical before taking it, even if your doctor has presecribed it for you. This is especially true in porphyria. If a drug is metabolized in the liver, you do not want to use it.

     Porphyrins are manufactured in the liver. With increased acute attacks or what some call chronic porphyria, the liver may be damaged more readily.

     Avoiding drugs is imperative. Seeking immediate Intervention Therapy is also imperative to reduce the risk of developing porphyrin crystallization in the liver

     The liver converts carbohydrates, fats, and proteins into chemicals essential for life and growth. It manufactures and exports to other organs some of the substances they need to function properly, such as the bile used by the intestines during digestion.

     The liver carries out the function of "metabolizing". It modifies drugs taken to treat disease so that they can be used more easily by the body. And it cleanses the blood of toxic substances either ingested or produced by the body iself.

     In porphyria patients, it is necessary to be knowledgeable about one's liver and safeguard the liver from harmful acute attacks, drugs, and other chemical and environmental toxins.

Jerry Schultz PA
Hepatology


DRUG UPDATE

PYOREDOL is a brand name for the generic drug PHENYTON. Another name is DILANTIN. It is an antiepileptic drug. It is related to barbiturates in chemical structure.The liver is the chief site of biotransformation of phenytoin; patients with impaired liver function and porphyria should not take this drug.

DESEC is a brand name for the generic drug OMEPRAZOLE. In clinical trials this drug was known to elevate liver functions. Some hepatic failure was noted. The drug is metabolized in the liver. Caution is listed for persons with liver impairment.

ATIVAN is a brand name for the generic drug LORAZEPAM. It is a BENZODIAZEPINE. It is used as an antianxiety drug, a sedative and as a hypnotic. Disorientation, depression, nausea, change in appetite, headache, sleep disturbance, agitation, dermatological symptoms, eye-function disturbance, together with various gastrointestinal symptoms and autonomic manifestations can occur with the use of this drug. Transient amnesia or memory impairment has been reported in association with the use of benzodiazepines. Drug dependence and withdrawl symptoms may occur. This drug is not recommended for use in patients with a primary depressive disorder or psychosis. The drug is metabolized in the liver. Patients should have periodic blood counts andliver-function tests are recommended for patients on long-term therapy. This drug is not recommended for patients with liver disease.

ANTISACER is a brand name for the generic drug PHENYTON. Another name is DILANTIN. It is an antiepileptic drug. It is related to barbiturates in chemical structure.The liver is the chief site of biotransformation of phenytoin; patients with impaired liver function and porphyria should not take this drug.

OMEZOL is a brand name for the generic drug OMEPRAZOLE. In clinical trials this drug was known to elevate liver functions. Some hepatic failure was noted. The drug is metabolized in the liver. Caution is listed for persons with liver impairment.

DINAZIDE is a brand name for the generic drug HYDROCHLOROTHIAZIDE TRIAMTERENE. It is classified as a dieuretic. It can cause liver enzyme abnormalities. It can also cause renal failure. This drug can also reduce levels of blood serum potassium essential to electrolyte balance. This drug also contains the ingredient of sulfate.

CONTRAMAL is a brand name for the generic drug TRAMADOL. It is an analgesic. Seizures have been reported in patients receiving this drug. Respiratory depression may also occur. The drug is metabolized in the liver. Besides the possibility of seizures, paresthesia, cognitive dysfunction, hallucinations, tremor, amnesia, difficulty in concentration, abnormal gait, and depression have occurred in the central nervous system. This drug is considered UNSAFE for porphyria patients

TRISURAL is a brand name for the generic drug combination of SULFAMETHOXAZOLE and TRIMETHOPRIM. It contains sulfa as an ingredient. The drug carries a warning against use in persons with the disease porphyria

ORTANOL is a brand name for the generic drug OMEPRAZOLE. In clinical trials this drug was known to elevate liver functions. Some hepatic failure was noted. The drug is metabolized in the liver. Caution is listed for persons with liver impairment.

APO-TRIAZIDE is a brand name for the generic drug HYDROCHLOROTHIAZIDE TRIAMTERENE. It is classified as a dieuretic. It can cause liver enzyme abnormalities. It can also cause renal failure. This drug can also reduce levels of blood serum potassium essential to electrolyte balance. This drug also contains the ingredient of sulfate.

KELFIPRIM is a brand name for the generic drug combination of SULFAMETHOXAZOLE and TRIMETHOPRIM. It contains sulfa as an ingredient. The drug carries a warning against use in persons with the disease porphyria



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